Please note this is a beta version of the ClinGen Evidence Repository. This resource is intended to provide access to variant level evidence used and applied by ClinGen Variant Curation Expert Panels in the classification of variants. In this beta version, the evidence is limited to curation notes and referenced literature (PMIDs).
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PAH-specific ACMG/AMP criteria applied: PP3: in silico analysis supportive of damaging effect; PM3_Strong: In trans with R261Q (PMID 21147011), and in trans with IVS2+1G>A (PMID 12655554) (PMID:21147011; PMID:12655554); PP4_Moderate: BH4 deficiency excluded (PMID:21147011). In summary this variant meets criteria to be classified as likely pathogenic for phenylketonuria in an autosomal recessive manner based on the ACMG/AMP criteria applied as specified by the PAH Expert Panel: (PP3, PM3_Strong, PP4_Moderate).
Met criteria codes
BH4 deficiency excluded
BH4 defect excluded at NBS and by sequencing of BH4 associated genes
In trans with R261Q (PMID 21147011), and in trans with IVS2+1G>A (PMID 12655554)
PAH specific specifications state PM2 criteria as 0.02% (AF=0.0002)
Approved on: 2018-07-29
Published on: 2019-04-06
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